title: Abnormal myelination in a patient with ring chromosome 18.
abstract: We describe a Japanese boy with ring chromosome 18 in whom abnormal myelination was observed on magnetic resonance imaging. Cytogenetic investigation revealed 46, XY, r(18) (p11.2 q21.33). T2-weighted magnetic resonance imaging scan of the brain demonstrated high signal intensity consistent with abnormal myelination. Microsatellite marker analysis of DNA demonstrated only one copy of the myelin basic protein gene, derived from the mother. The present case indicates that a hemizygous state for the myelin protein gene may be related to the abnormal myelination.
authors.affiliation: Department of Pediatrics, University of Tsukuba, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Nakayama
authors.forename: K
authors.initials: K
authors.lastname: Hamano
authors.forename: Y
authors.initials: Y
authors.lastname: Shimakura
authors.forename: N
authors.initials: N
authors.lastname: Iwasaki
authors.forename: C
authors.initials: C
authors.lastname: Nakahara
authors.forename: N
authors.initials: N
authors.lastname: Imoto
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: T
authors.initials: T
authors.lastname: Arinami
authors.forename: H
authors.initials: H
authors.lastname: Hamaguchi
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D009185:Myelin Proteins / Q000235:genetics; D009186:Myelin Sheath / Q000235:genetics; D010375:Pedigree; D012303:Ring Chromosomes
chemical_list: D009185:Myelin Proteins